Filamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease–like Vascular Formation Associated With RNF213 p.R4810K Variant

BACKGROUND AND OBJECTIVE: The objective of this case report was to identify a second-hit gene that may promote Moyamoya disease (MMD)–like vascular formation in an individual having the RNF213 p.R4810K variant. METHODS: We performed magnetic resonance imaging and genetic analyses of RNF213 and FLNA...

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Detalles Bibliográficos
Autores principales: Ikeuchi, Yasuhito, Kitayama, Jiro, Sahara, Noriyuki, Okata, Takuya, Miyake, Noriko, Matsumoto, Naomichi, Kitazono, Takanari, Ago, Tetsuro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9465836/
https://www.ncbi.nlm.nih.gov/pubmed/36101542
http://dx.doi.org/10.1212/NXG.0000000000200017

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